RESUMO
<p><b>OBJECTIVE</b>To identify clinical and laboratory abnormalities and genetic defect of Fechtner syndrome in a Chinese family.</p><p><b>METHODS</b>The characteristic morphological features of platelets and leukocytes were examined on blood smears with Wright's-Giemsa staining and ultrastructure of platelet and leukocyte were investigated under electron microscope. Genomic DNA was isolated from peripheral blood of the proband and 9 members of his family. All the exons and exon-intron boundaries of the MYH9 gene were amplified by PCR followed by direct sequencing.</p><p><b>RESULTS</b>Patients presented the characteristic clinical features including macrothrombocytopenia, leukocyte inclusions and/or hereditary nephritis. A heterozygous C to T mutation was found in the proband and three members of his family at nucleotide 5981 in exon 40 of MYH9 gene, resulting in a nonsense mutation which encoded truncated protein due to premature termination at the Arg 1933 codon.</p><p><b>CONCLUSION</b>It is the first report of a Chinese family with Fechtner syndrome. The Arg (CGA) 1933--> stop (TGA) nonsense mutation in MYH9 gene is a causative genetic defect.</p>
Assuntos
Adulto , Humanos , Masculino , Códon sem Sentido , Análise Mutacional de DNA , Éxons , Genética , Corpos de Inclusão , Genética , Proteínas Motores Moleculares , Genética , Cadeias Pesadas de Miosina , Genética , Nefrite Hereditária , Genética , Linhagem , Síndrome , Trombocitopenia , GenéticaRESUMO
In order to prove the feasibility of preparation of the drug-incorporated stent by immersing stent wires in the monoclonal antibody (mAb) solution, fluorescence stain and image analysis were used to evaluate the L-PLA-coated stent. Absorption was measured using a radioisotope technique after preparing the mAb-incorporated stent, and the absorption curve was determined from the absorption data. In an in vitro perfusion circuit, the antibody was eluted from the stent matrices, and the related influence factors were evaluated based on the release data.